PKD1 c.2159A>C ;(p.D720A)

Variant ID: 16-2164865-T-G

NM_001009944.2(PKD1):c.2159A>C;(p.D720A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: PKD1: D720A
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Protein kinase D promotes airway epithelial barrier dysfunction and permeability through down-regulation of claudin-1.

The Journal Of Biological Chemistry
Gan, Huachen H; Wang, Guibo G; Hao, Qin Q; Wang, Q Jane QJ; Tang, Hua H
Publication Date: 2013-12-27

Variant appearance in text: PKD1: D720A
PubMed Link: 24265314
Variant Present in the following documents:
  • Main text
View BVdb publication page